title: The H syndrome is caused by mutations in the nucleoside transporter hENT3.
abstract: The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three mutations were found in 11 families of Arab and Bulgarian origin. The finding of several different mutations in a small geographic region implies that the H syndrome might be rather common. The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder.
authors.affiliation: Department of Dermatology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
authors.forename: Israela
authors.initials: I
authors.lastname: Lerer
authors.forename: Dvorah
authors.initials: D
authors.lastname: Abeliovich
authors.forename: Ziad
authors.initials: Z
authors.lastname: Agha
authors.forename: Abdulasalam
authors.initials: A
authors.lastname: Abu Libdeh
authors.forename: Valentina
authors.initials: V
authors.lastname: Broshtilova
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D006720:Homozygote; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis / Q000235:genetics*; D006983:Hypertrichosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human